Genome-wide association study of serious blistering skin rash caused by drugs

Y. Shen, P. Nicoletti, A. Floratos, M. Pirmohamed, M. Molokhia, P. Geppetti, S. Benemei, B. Giomi, D. Schena, A. Vultaggio, R. Stern, M. J. Daly, S. John, M. R. Nelson, I. Pe'er

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but severe, potentially life threatening adverse drug reactions characterized by skin blistering. Previous studies have identified drug-specific and population-specific genetic risk factors with large effects. In this study, we report the first genome-wide association study (GWAS) of SJS/TEN induced by a variety of drugs. Our aim was to identify common genetic risk factors with large effects on SJS/TEN risk. We conducted a genome-wide analysis of 96 retrospective cases and 198 controls with a panel of over one million single-nucleotide polymorphisms (SNPs). We further improved power with about 4000 additional controls from publicly available datasets. No genome-wide significant associations with SNPs or copy number variants were observed, although several genomic regions were suggested that may have a role in predisposing to drug-induced SJS/TEN. Our GWAS did not find common, highly penetrant genetic risk factors responsible for SJS/TEN events in the cases selected.

Original languageEnglish
Pages (from-to)96-104
Number of pages9
JournalPharmacogenomics Journal
Issue number2
StatePublished - Apr 2012
Externally publishedYes


  • GWAS
  • SNP
  • Stevens-Johnson syndrome
  • drug adverse reactions
  • pharmacogenetics
  • serious skin rash


Dive into the research topics of 'Genome-wide association study of serious blistering skin rash caused by drugs'. Together they form a unique fingerprint.

Cite this